Treatment of Neonatal Hemochromatosis with Exchange Transfusion and Intravenous Immunoglobulin

Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
The Journal of pediatrics (Impact Factor: 3.79). 07/2009; 155(4):566-71. DOI: 10.1016/j.jpeds.2009.04.012
Source: PubMed


To determine if immunomodulatory treatment including intravenous immunoglobulin (IVIG) can favorably affect survival in neontatal hemochromatosis (NH) diagnosed postnatally because it can effectively prevent occurrence of NH when applied during gestations at risk.
We treated 16 newborn infants with liver failure due to NH with high-dose IVIG, in combination with exchange transfusion in 13 (ET/IVIG), and compared the outcome with 131 historical controls treated conventionally.
The severity of liver disease as estimated by prothrombin time was similar in the subjects receiving ET/IVIG and the historical controls, and the medical therapy was equivalent with the exception of the ET/IVIG therapy. Twelve subjects (75%) had good outcome, defined as survival without liver transplantation, whereas good outcome was achieved in only 17% (23/131) of historical control patients (P < .001). Four subjects died, 2 without and 2 after liver transplant. Survivors were discharged 6 to 90 days after receiving ET/IVIG therapy, and those followed for more than 1 year are within normal measures for growth, development, and liver function.
Immune therapy with ET/IVIG appears to improve the outcome and reduce the need for liver transplantation in patients with NH.

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    • "He was treated with intravenous desferrioxamine , sodium selenite pentahydrate, and N-acetylcysteine and was supported with blood and blood-product transfusions. At age 10 and 16 days he was given intravenous immunoglobulin (0.5 g/kg), and at 21 days he underwent single-volume exchange transfusion [22]. Poor clinical status prompted listing for liver transplantation (LT) at age 12 days. "
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    ABSTRACT: Background and aim: Neonatal hemochromatosis (NH) is characterised by severe liver injury and extrahepatic siderosis sparing the reticuloendothelial system. Its aetiology is obscure, although it has been proposed as an alloimmune disease, resulting from immunological reaction to self-antigens (alloantigens) which the body recognizes as foreign. We studied an infant with NH and his mother whose sera contained antimitochondrial antibody (AMA), the hallmark of primary biliary cirrhosis (PBC). Material and methods: To investigate the origin of AMA in the infant, we studied isotype distributions in serum from the mother and infant. Serum samples were obtained at diagnosis of NH, after liver transplantation (LT; age 1 month), and over the ensuing 17 months. Results: At NH diagnosis, infant and maternal serum contained AMA of the IgG isotype, predominantly of the G3 and G1 subclasses. AMA strongly reacted against the pyruvate dehydrogenase complex E2 subunit (PDC-E2), the major PBC-specific AMA autoantigen. Anti-PDC-E2 responses in both infant and mother declined over time, being present 2 months after LT (mother and child) and absent 10 months later (mother) and 17 months later (child). Conclusion: The association of maternally transferred IgG1 and IgG3 subclass AMA with the appearance of liver damage in an infant with NH may suggest a causal link between antibody and liver damage.
    Full-text · Article · Sep 2013 · Clinical and Developmental Immunology
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    • "The prognosis for patients with NH is grim; most succumb to the complications of end-stage liver disease within the first few weeks of life if not successfully rescued by liver transplantation [7,12-16]. Treatment with either anti-oxidant/chelator cocktail, or exchange transfusion and IVIG has been reported to be successful in small series of patients but these therapies have not been systematically evaluated. The survival after liver transplantation is 50% (median follow up 7.8 years, range 3-10 years). "
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